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To study CoQ 10 concentrations in muscle and fibroblast from 6 patients with a CoQ 10 deficiency syndrome.CoQ 10 was quantified by HPLC with electrochemical detection.Four out of the 6 cases showed muscle CoQ 10 deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ 10 values in fibroblasts when compared...
Coenzyme Q10 (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. The third is the most common phenotype related with CoQ deficiency and it will be the focus of this review. This new syndrome presents muscle CoQ deficiency...
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